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The Excellence in Pediatrics Spot The Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients. 

Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central and peripheral nervous systems, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions, confusing non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment significantly affect the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome.

To assist, EIP has launched the Spot the Early Signs Resource Centre to spread education in local medical communities and further develop and expand the trained on MLD frontline healthcare professionals network. The Resource Centre allows members to collaborate, engage and interact, providing easy access to information and educational resources when needed. This facility is available for members themselves and for sharing with colleagues. All recorded webinars are available to view without charge via the Resources Section of the site, along with further information on the Faculty, the Upcoming Live New Webinars and how you can Join Us to make your colleagues ‘think rare’ at every opportunity.



Join the Spot the Early Sign Program Network and help mobilise child healthcare professionals' collective power to ’think rare’ and look for the signs of rare diseases in every consultation. As a network member, you can volunteer as the primary contact point in your clinic, hospital or institution and disseminate the Spot the Early Signs material and resources to your colleagues. You can also volunteer to deliver a Spot the Early Signs Webinar in a local language with all slides and material provided by EIP. Signing up and accessing all the latest guidance, webinars, and educational materials is free.

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Alpha-mannosidosis: Minimising Delays in Diagnosis and Referral of Patients

The symptoms, severity, and progression of AM vary widely between individuals, making diagnosis challenging and often delayed. Minimising the time to diagnosis is important in ensuring that individuals with AM and their families receive timely access to support and specialist MDT care.

Visit our resource centre to access 6 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.


Metachromatic Leukodystrophy:
Minimising Delays in Diagnosis and Referral of Patients

Early-onset symptoms can often be confused with those of other conditions, leading to misdiagnosis, incorrect referrals, and delays in treatment.

Visit our resource centre on MLD to access 10 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.


Mucopolysaccharidosis: Understanding the path to successful diagnosis of MPS in children

Misdiagnosis of MPS often leads to delayed diagnosis, as symptoms are commonly mistaken for other conditions. This frequently results in attempts to treat symptoms directly, thus postponing the actual diagnosis and treatment or referring the patient to incorrect pediatric specialties.

Explore our MPS resource centre to discover 38 free webinars. These sessions are tailored to enhance your understanding of the disease and guide you through the referral and diagnosis process.